1. Panels
  2. Pulmonary arterial hypertension
The latest signed off version for the GMS is v4.0. The current version, shown here, may differ from the signed-off version.

Pulmonary arterial hypertension (Version 4.5)

Level 2: Respiratory

Relevant disorders: PAH, R188
Panel types: Rare Disease 100K, GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Latest signed off version: v4.0 (30 Apr 2025)
Previously signed off versions: v3.0, v2.2
Previous code: 58c7f8a78f62033482c42716
Description
This panel is used for clinical indication 'R188 Pulmonary arterial hypertension' in the NHS Genomic Medicine Service.

Further information on the testing criteria and any overlapping clinical indications can be found within (https://www.england.nhs.uk/publication/national-genomic-test-directories/) under 'R188 Pulmonary arterial hypertension'.

A version of this panel has been signed off under NHS Genomic Medicine Service governance (see 'Latest signed off version' in the panel header information).

This panel will continue to be curated based on external reviews and Genomics England curation. New changes will be reflected in an increase to the minor version of the panel and details of these can be viewed in the 'Panel Activity' page. Periodically, these changes will be reviewed by a NHS Genomic Medicine Service evaluation process. The content that is agreed for the GMS panels will be reflected in an updated signed off version number.

CNVs, STRs and genes encoded by the mitochondrial genome may not be routinely included in the analysis where the panel is NOT delivered by WGS. Please contact your Genomic Laboratory Hub for information regarding specific queries.

Some of the genes in this panel cause conditions that typically present in adulthood. Please consider this when applying the panel.

This panel was originally developed for the 100,000 Genomes Project and is still being used for participants in the project. For the rare disease eligibility criteria refer to: https://www.genomicsengland.co.uk/rarediseasecriteria100K

This panel includes genes and from BRIDGE consortium Tier 1 genes from NIHR BioResource – Rare Diseases Study (NIHRBR-RD) sent by Dr Karyn Megy, WGS Clinical Feedback Lead and incorporates pertinent genes associated to PAH. The following experts from the BRIDGE consortium NIHRBR-RD contributed : Professor Nicolas Morrell, Dr Simon Holden  (Cambridge University Hospitals NHS Foundation Trust), Dr Charaka Hadinnapola (Papworth Hospital NHS Foundation Trust), Dr Stefan Graf, Louise Daugherty, Dr Karyn Megy (NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust).
Panel Activity

14 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Stefan Graf (Department of Medicine, University of Cambridge)

    Group: GeCIP domain
    Workplace: Research lab

  • Sarah Leigh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

  • BRIDGE consortium (NIHRBR-RD)

    Group: Other
    Workplace: Other

  • Arianna Tucci (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Eleanor Williams (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Zornitza Stark (Australian Genomics)

    Group: Other
    Workplace: Other clinical service

  • Anna de Burca (Oxford University Hospitals NHS Foundation Trust)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

  • Ivone Leong (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Dmitrijs Rots (Children's Clinical University Hospital)

    Group: Other
    Workplace: Research lab

  • Arina Puzriakova (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Nicholas Morrell (University of Cambridge)

    Group: Other NHS organisation
    Workplace: Research lab

  • Achchuthan Shanmugasundram (Genomics England Curator)

    Group: Other
    Workplace: Other

22 Entities

22 reviewed, 13 green

List Entity Reviews Mode of inheritance Details
22 Entitiess
Green List (high evidence)
ABCC8
3 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Diabetes mellitus
  • Hypoglycaemia
  • Pulmonary arterial hypertension
Tags
Green List (high evidence)
ACVRL1
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Literature
  • NHS GMS
  • UKGTN
Phenotypes
  • Telangiectasia, hereditary hemorrhagic, type 2, 600376
  • Heritable pulmonary arterial hypertension
  • HPAH
Tags
Green List (high evidence)
ATP13A3
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Pulmonary hypertension, primary, 5, OMIM:265400
  • pulmonary hypertension, primary, autosomal recessive, MONDO:0009935
Tags
Green List (high evidence)
BMPR2
3 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Literature
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Pulmonary hypertension, familial primary, 1, with or without HHT, 178600
  • Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated, 178600
  • Idiopathic pulmonary arterial hypertension
  • IPAH
  • Heritable pulmonary arterial hypertension
  • HPAH
  • Pulmonary arterial hypertension
  • Pulmonary venoocclusive disease 1, 265450
  • PVOD
Tags
Green List (high evidence)
EIF2AK4
3 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Pulmonary venoocclusive disease 2, OMIM:234810
  • PVOD
  • pulmonary capillary hemangiomatosis
  • PCH
  • Heritable pulmonary arterial hypertension
  • HPAH
  • Pulmonary arterial hypertension
  • Idiopathic pulmonary arterial hypertension
  • IPAH
Tags
Green List (high evidence)
ENG
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Literature
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Telangiectasia, hereditary hemorrhagic, type 1, 187300
  • Heritable pulmonary arterial hypertension
  • HPAH
  • Hereditary hemorrhagic telangiectasia
  • HHT
Tags
Green List (high evidence)
GDF2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Heritable pulmonary arterial hypertension
  • HPAH
Tags
Green List (high evidence)
KCNK3
3 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Pulmonary hypertension, primary, 4, OMIM:615344
Tags
Green List (high evidence)
KDR
4 reviews
3 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Heritable pulmonary arterial hypertension, MONDO:0017148
Tags
Green List (high evidence)
SARS2
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Tags
Green List (high evidence)
SMAD9
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Literature
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Idiopathic pulmonary arterial hypertension
  • IPAH
  • Heritable pulmonary arterial hypertension
  • HPAH
  • Pulmonary arterial hypertension
  • Pulmonary hypertension, primary, 2, 615342
Tags
Green List (high evidence)
SOX17
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Heritable pulmonary arterial hypertension
  • HPAH
Tags
Green List (high evidence)
TBX4
3 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Literature
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension, OMIM:147891
Tags
Amber List (moderate evidence)
AQP1
3 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
  • NHS GMS
Phenotypes
  • Heritable pulmonary arterial hypertension, HPAH, MONDO:0017148
Tags
  • watchlist
Amber List (moderate evidence)
CAPNS1
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Pulmonary hypertension, primary, 6, OMIM:620777
Tags
  • watchlist
Amber List (moderate evidence)
CAV1
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Amber
  • Literature
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Pulmonary hypertension, primary, 3, 615343
  • Heritable pulmonary arterial hypertension
  • HPAH
  • Pulmonary arterial hypertension
Tags
Amber List (moderate evidence)
NFU1
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Multiple mitochondrial dysfunctions syndrome 1, OMIM:605711
  • Pulmonary hypertension in early infancy
Tags
Red List (low evidence)
BMPR1B
1 review
 Unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Idiopathic pulmonary arterial hypertension
  • IPAH
Tags
Red List (low evidence)
CBLN2
1 review
1 red 		Unknown
Sources
  • Literature
Tags
Red List (low evidence)
KCNA5
1 review
1 red 		Unknown
Sources
  • Literature
Phenotypes
  • Idiopathic pulmonary arterial hypertension
  • IPAH
Tags
Red List (low evidence)
SMAD1
2 reviews
1 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Literature
Phenotypes
  • Idiopathic pulmonary arterial hypertension
  • IPAH
  • heritable pulmonary arterial hypertension
  • HPAH
Tags
Red List (low evidence)
SMAD4
2 reviews
1 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Literature
Phenotypes
  • Idiopathic pulmonary arterial hypertension
  • IPAH
  • Heritable pulmonary arterial hypertension
  • HPAH
  • Pulmonary arterial hypertension
  • Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050
Tags

Major version comments

  • 2025-04-30 16:18 Achchuthan Shanmugasundram (Genomics England Curator) promoted panel to 4.0
    The content of this panel has been updated in accordance with changes agreed with the NHS Genomic Medicine Service. The panel was promoted to the next major version (4.0) following this.

    2022-11-30 15:02 Eleanor Williams (Genomics England Curator) promoted panel to 3.0
    The content of this panel has been updated in accordance with changes agreed with the NHS Genomic Medicine Service. The panel was promoted to the next major version (3.0) following this.

    2019-09-23 17:04 Louise Daugherty (Genomics England Curator) promoted panel to 2.0
    The content of this panel (version 1.48) was signed off under NHS Genomic Medicine Service governance on (23/09/2019). The panel was promoted to the next major version (version 2.0) as a result of this.

    Panel reviews were assessed, and panel was revised according to reviews and further in-house curation.

Downloads

Download lists

  • Whole panel
  • Green list (high evidence)
  • Green and Amber Genes
  • Amber Genes
  • Red list (low evidence)

Download Version